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rs869312128

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312128(A;A)
Make rs869312128(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position80106696
GeneBCKDHB
is asnp
is mentioned by
dbSNPrs869312128
ebirs869312128
HLIrs869312128
Exacrs869312128
Varsomers869312128
Maprs869312128
PheGenIrs869312128
hapmaprs869312128
1000 genomesrs869312128
hgdprs869312128
ensemblrs869312128
gopubmedrs869312128
geneviewrs869312128
scholarrs869312128
googlers869312128
pharmgkbrs869312128
gwascentralrs869312128
openSNPrs869312128
23andMers869312128
23andMe allrs869312128
SNP Nexus

SNPshotrs869312128
SNPdbers869312128
MSV3drs869312128
GWAS Ctlgrs869312128
Max Magnitude0
ClinVar
Risk rs869312128(A;A)
Alt rs869312128(A;A)
Reference rs869312128(G;G)
Significance Pathogenic
Disease Maple syrup urine disease
Variation info
Gene BCKDHB
CLNDBN Maple syrup urine disease
Reversed 0
HGVS NC_000006.11:g.80816413G>A
CLNSRC
CLNACC RCV000209790.1,